ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=)

dbSNP: rs1588598230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002234318 SCV000937944 likely benign Ehlers-Danlos syndrome, classic type, 1 2022-07-19 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483729 SCV004228987 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-15-2018 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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